Incidental Mutation 'R8982:Actg2'
ID 683774
Institutional Source Beutler Lab
Gene Symbol Actg2
Ensembl Gene ENSMUSG00000059430
Gene Name actin, gamma 2, smooth muscle, enteric
Synonyms SMGA, Acta3, Act-4, Act4
MMRRC Submission 068815-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8982 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 83489891-83513233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83497697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 185 (D185G)
Ref Sequence ENSEMBL: ENSMUSP00000074658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075161] [ENSMUST00000121731] [ENSMUST00000141904] [ENSMUST00000152029] [ENSMUST00000205926]
AlphaFold P63268
Predicted Effect probably benign
Transcript: ENSMUST00000075161
AA Change: D185G

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000074658
Gene: ENSMUSG00000059430
AA Change: D185G

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121731
AA Change: D185G

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113552
Gene: ENSMUSG00000059430
AA Change: D185G

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141904
AA Change: D185G

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120936
Gene: ENSMUSG00000059430
AA Change: D185G

DomainStartEndE-ValueType
ACTIN 6 270 4.78e-116 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152029
AA Change: D185G

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121577
Gene: ENSMUSG00000059430
AA Change: D185G

DomainStartEndE-ValueType
ACTIN 6 195 1.09e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000205926
AA Change: D112G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 A G 1: 78,677,485 (GRCm39) N493S probably benign Het
Alpk3 A G 7: 80,748,750 (GRCm39) N1439S probably damaging Het
Arid1b T A 17: 5,293,316 (GRCm39) S745T probably damaging Het
Atxn2l CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 7: 126,093,420 (GRCm39) probably benign Het
C4b A G 17: 34,953,338 (GRCm39) probably null Het
Cenpc1 A G 5: 86,195,533 (GRCm39) S79P probably damaging Het
Cep295nl A T 11: 118,224,671 (GRCm39) W58R probably damaging Het
Ces2f T A 8: 105,679,667 (GRCm39) C387S probably benign Het
Cfap74 G A 4: 155,521,187 (GRCm39) E620K Het
Ckap5 T C 2: 91,437,923 (GRCm39) V1668A possibly damaging Het
Clock A G 5: 76,364,559 (GRCm39) V852A unknown Het
Col22a1 A G 15: 71,845,487 (GRCm39) probably null Het
Copb2 T C 9: 98,456,164 (GRCm39) S233P probably damaging Het
Dnah3 T C 7: 119,536,294 (GRCm39) Y684C probably damaging Het
Dnah7a T C 1: 53,570,301 (GRCm39) E1835G probably benign Het
F830045P16Rik T A 2: 129,314,812 (GRCm39) Q155L probably damaging Het
Fhad1 T C 4: 141,729,895 (GRCm39) D36G probably damaging Het
Hectd4 T C 5: 121,466,305 (GRCm39) V2412A probably benign Het
Hoxa13 T A 6: 52,235,916 (GRCm39) K210* probably null Het
Hoxc5 T C 15: 102,923,740 (GRCm39) Y179H probably damaging Het
Hrob G A 11: 102,146,110 (GRCm39) A129T probably benign Het
Htr1d A T 4: 136,170,866 (GRCm39) Q365L possibly damaging Het
Krt72 C T 15: 101,690,059 (GRCm39) V253M possibly damaging Het
Mecom G A 3: 30,017,255 (GRCm39) T470I probably damaging Het
Nefh G A 11: 4,897,549 (GRCm39) A129V probably damaging Het
Nlrp2 T A 7: 5,327,978 (GRCm39) I692F probably damaging Het
Nr6a1 T A 2: 38,762,613 (GRCm39) I61L probably benign Het
Or10aa1 T G 1: 173,870,188 (GRCm39) V224G probably damaging Het
Or10j2 G A 1: 173,098,306 (GRCm39) C188Y probably damaging Het
Or5d18 A T 2: 87,864,613 (GRCm39) I290K probably damaging Het
Pck1 T C 2: 172,999,112 (GRCm39) V426A probably damaging Het
Pkhd1l1 T A 15: 44,387,069 (GRCm39) L1314* probably null Het
Pogz G A 3: 94,786,879 (GRCm39) V1156M probably damaging Het
Pramel23 T G 4: 143,424,886 (GRCm39) I186L probably benign Het
Prrc2b T A 2: 32,102,134 (GRCm39) C736S probably damaging Het
Psg18 T A 7: 18,083,300 (GRCm39) H285L probably benign Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Ptprk A T 10: 28,436,138 (GRCm39) D833V probably damaging Het
Rfx6 G A 10: 51,599,915 (GRCm39) V554M probably benign Het
Rimbp3 A G 16: 17,027,511 (GRCm39) T312A probably benign Het
Slfn5 G A 11: 82,850,966 (GRCm39) W421* probably null Het
Srcin1 A G 11: 97,426,624 (GRCm39) I291T probably damaging Het
Sult3a2 T C 10: 33,658,069 (GRCm39) N15D probably damaging Het
Tmem179 A T 12: 112,468,301 (GRCm39) L193Q probably damaging Het
Tmem200b T A 4: 131,649,668 (GRCm39) L196Q probably damaging Het
Trim71 T C 9: 114,342,804 (GRCm39) T493A possibly damaging Het
Trp53bp2 T A 1: 182,263,001 (GRCm39) probably null Het
Zbtb47 A G 9: 121,592,334 (GRCm39) E218G probably benign Het
Zbtb7c G A 18: 76,279,344 (GRCm39) G601S probably damaging Het
Zdhhc3 A G 9: 122,929,578 (GRCm39) L19P probably benign Het
Zfp385b G T 2: 77,242,300 (GRCm39) T473K probably damaging Het
Zfp804a A G 2: 82,066,172 (GRCm39) K48E probably damaging Het
Other mutations in Actg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Actg2 APN 6 83,500,157 (GRCm39) missense probably damaging 1.00
PIT4508001:Actg2 UTSW 6 83,489,989 (GRCm39) missense possibly damaging 0.92
R0309:Actg2 UTSW 6 83,496,896 (GRCm39) missense probably damaging 1.00
R0319:Actg2 UTSW 6 83,497,725 (GRCm39) missense probably damaging 1.00
R1253:Actg2 UTSW 6 83,499,869 (GRCm39) missense probably damaging 1.00
R1619:Actg2 UTSW 6 83,500,169 (GRCm39) missense probably damaging 1.00
R1677:Actg2 UTSW 6 83,499,801 (GRCm39) missense possibly damaging 0.92
R2512:Actg2 UTSW 6 83,503,829 (GRCm39) missense probably damaging 1.00
R4127:Actg2 UTSW 6 83,499,866 (GRCm39) missense possibly damaging 0.86
R4195:Actg2 UTSW 6 83,500,155 (GRCm39) missense probably damaging 1.00
R5165:Actg2 UTSW 6 83,503,814 (GRCm39) missense probably benign 0.22
R5661:Actg2 UTSW 6 83,497,754 (GRCm39) missense probably damaging 0.98
R6030:Actg2 UTSW 6 83,493,346 (GRCm39) missense probably damaging 1.00
R6030:Actg2 UTSW 6 83,493,346 (GRCm39) missense probably damaging 1.00
R6707:Actg2 UTSW 6 83,490,076 (GRCm39) nonsense probably null
R7069:Actg2 UTSW 6 83,497,745 (GRCm39) missense probably damaging 1.00
R7763:Actg2 UTSW 6 83,504,350 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAACTAGGCTGTCTTACCACTGC -3'
(R):5'- CTCGTGGTAGGTGAATTTTCTTAAC -3'

Sequencing Primer
(F):5'- GTCTTACCACTGCAGGTCAGC -3'
(R):5'- AGGCATCGTTCTGGATTC -3'
Posted On 2021-10-11